Article
Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
Italian journal of pediatrics - 29 Apr 2020
Wang Ruixue, Xiao Yongmei, Li Dan, Hu Hui, Li Xiaolu, Ge Ting, Yu Ronghua, Wang Yizhong, Zhang Ting
Abstract excerpt
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder with variable clinical features and cancer predisposition. In this study, we aim to characterize the clinical features and molecular defects of BWS patients in China. METHODS: Thirty-one patients with clinical suspicion of BWS were retrospectively recruited to the study from Shanghai Children's Hospital between January 2014 and...
Topics
- Beckwith-Wiedemann Syndrome
- Child
- Child, Preschool
- China
- Female
- Genotype
- Humans
- Infant
- Male
- Phenotype
- Retrospective Studies